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Article

Confirming putative variants at ≤ 5% allele frequency using allele enrichment and Sanger sequencing.

Scientific reports - 2 Jun 2021

Yan Yan Helen, Chen Sherry X, Cheng Lauren Y, Rodriguez Alyssa Y, Tang Rui, Cabrera Karina, Zhang David Yu

Abstract excerpt

Whole exome sequencing (WES) is used to identify mutations in a patient's tumor DNA that are predictive of tumor behavior, including the likelihood of response or resistance to cancer therapy. WES has a mutation limit of detection (LoD) at variant allele frequencies (VAF) of 5%. Putative mutations called at ≤ 5% VAF are frequently due to sequencing errors, therefore reporting these subclonal mutations incurs risk...

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Identifiers

PMID: 34079006
DOI: 10.1038/s41598-021-91142-1
PMCID: PMC8172533

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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